World Orphan Drug Congress USA 2018
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World Orphan Drug Congress 2018 Blueprint Genetics Whitepaper


Setting a new standard for clinical testing through fully transparent validation.


Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the sequencing methods and data analysis pipelines and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic validation of all laboratory and data analysis assays per ACMG guidelines.


Blueprint Genetics applies independent and publicly available sample materials and data sets as the reference materials in all validation studies, to ensure full traceability of the validation results. Comparisons are performed using all available data and no post-analysis corrections have been applied.


By downloading our whitepaper, you will learn more about the quality and performance of Blueprint Genetics’ sequencing analyses and data analysis pipelines. You will also learn more about our reporting process.


To learn more about Blueprint Genetics, visit our website .


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